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  • Sauter, MatthiasKlinikum Kempten-Oberallgäu (författare)

Rare manifestations and malignancies in tuberous sclerosis complex : findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)

  • Artikel/kapitelEngelska2021

Förlag, utgivningsår, omfång ...

  • 2021-07-06
  • Springer Science and Business Media LLC,2021

Nummerbeteckningar

  • LIBRIS-ID:oai:lup.lub.lu.se:b56a3692-5599-441d-8b21-dceaf851c300
  • https://lup.lub.lu.se/record/b56a3692-5599-441d-8b21-dceaf851c300URI
  • https://doi.org/10.1186/s13023-021-01917-yDOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:147107995URI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

  • Ämneskategori:art swepub-publicationtype
  • Ämneskategori:ref swepub-contenttype

Anmärkningar

  • BACKGROUND: Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant disorder caused by pathogenic variants in either the TSC1 or TSC2 gene. Common manifestations of TSC have been grouped into major and minor clinical diagnostic criteria and assessed in clinical routine workup. However, case studies point towards the existence of rare disease manifestations and to the potential association of TSC with malignant tumors. In this study we sought to characterize rare manifestations and malignancies using a large cohort of patients.METHODS: TuberOus SClerosis registry to increAse disease awareness (TOSCA) is a multicenter, international disease registry collecting clinical manifestations and characteristics of patients with TSC, both retrospectively and prospectively. We report rates and characteristics of rare manifestations and malignancies in patients with TSC who had enrolled in the TOSCA registry. We also examined these manifestations by age, sex, and genotype (TSC1 or TSC2).RESULTS: Overall, 2211 patients with TSC were enrolled in the study. Rare manifestations were reported in 382 (17.3%) study participants and malignancies in 65 (2.9%). Of these rare manifestations, the most frequent were bone sclerotic foci (39.5%), scoliosis (23%), thyroid adenoma (5.5%), adrenal angiomyolipoma (4.5%), hemihypertrophy and pancreatic neuroendocrine tumors (pNET; both 3.1%). These rare manifestations were more commonly observed in adults than children (66.2% vs. 22.7%), in females versus males (58.4% vs. 41.6%; except for scoliosis: 48.9% vs. 51.1%), and in those with TSC2 versus TSC1 (67.0% vs. 21.1%; except for thyroid adenoma: 42.9% vs. 57.1%). In the 65 individuals with reported malignancies, the most common were renal cell carcinoma (47.7%), followed by breast (10.8%) and thyroid cancer (9.2%). Although malignancies were more common in adult patients, 26.1% were reported in children and 63.1% in individuals < 40 years. TSC1 mutations were over-represented in individuals with malignancies compared to the overall TOSCA cohort (32.1% vs. 18.5%).CONCLUSION: Rare manifestations were observed in a significant proportion of individuals with TSC. We recommend further examination of rare manifestations in TSC. Collectively, malignancies were infrequent findings in our cohort. However, compared to the general population, malignant tumors occurred earlier in age and some tumor types were more common.

Ämnesord och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Belousova, ElenaPirogov Russian National Research Medical University (RNRMU) (författare)
  • Benedik, Mirjana PUniversity Medical Centre Ljubljana (författare)
  • Carter, TomTSA Tuberous Sclerosis Association, UK (författare)
  • Cottin, VincentHospital Louis Pradel (författare)
  • Curatolo, PaoloTor Vergata University Hospital (författare)
  • Dahlin, MariaKarolinska Institutet,Karolinska University Hospital (författare)
  • D'Amato, LisaNovartis Farma S.p.A (författare)
  • d'Augères, Guillaume BAssociation Sclérose Tubéreuse de Bourneville (författare)
  • de Vries, Petrus JUniversity of Cape Town (författare)
  • Ferreira, José CCentro Hospitalar de Lisboa Ocidental (CHLO) (författare)
  • Feucht, Martha (författare)
  • Fladrowski, Carla (författare)
  • Hertzberg, Christoph (författare)
  • Jozwiak, Sergiusz (författare)
  • Lawson, John A (författare)
  • Macaya, Alfons (författare)
  • Marques, Ruben (författare)
  • Nabbout, Rima (författare)
  • O'Callaghan, Finbar (författare)
  • Qin, Jiong (författare)
  • Sander, Valentin (författare)
  • Shah, Seema (författare)
  • Takahashi, Yukitoshi (författare)
  • Touraine, Renaud (författare)
  • Youroukos, Sotiris (författare)
  • Zonnenberg, Bernard (författare)
  • Jansen, Anna (författare)
  • Kingswood, J Chris (författare)
  • Rask, OlofLund University,Lunds universitet,Utvecklingsrelaterade störningar, affektiv sjukdom och ångestsyndrom i barn- och ungdomspsykiatri,Forskargrupper vid Lunds universitet,Evidensbaserade kliniska metoder,Disorders in clinical child and adolescent psychiatry,Lund University Research Groups,Evidence based clinical methods(Swepub:lu)pedi-ora (creator_code:cre_t)
  • Klinikum Kempten-OberallgäuPirogov Russian National Research Medical University (RNRMU) (creator_code:org_t)
  • TOSCA investigators

Sammanhörande titlar

  • Ingår i:Orphanet Journal of Rare Diseases: Springer Science and Business Media LLC16, s. 1-151750-1172

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